EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features
Ganetzky R, Finn E, Bagchi A, Zollo O, Conlin L, Deardorff M, Harr M, Simpson MA, McGrath JA, Zackai E, Lemmon MA, Sondheimer N. EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features. Molecular Genetics & Genomic Medicine 2015, 3: 452-458. PMID: 26436111, PMCID: PMC4585453, DOI: 10.1002/mgg3.156.Peer-Reviewed Original ResearchEpidermal growth factor receptorExtracellular domainEpidermal growth factor signalingGrowth factor signalingPatient-derived fibroblastsBinding of EGFExtracellular signalsGrowth factor receptorEarly senescenceFactor signalingDownstream targetsOncogenic transformationTissue developmentTyrosine kinaseConstitutive activationReceptor phosphorylationLarge familyFactor receptorProgeroid featuresAccelerated expressionMutationsΒ-galactosidaseEGFEGFR genotypeActivation